Gastroenterology 1976 Oct;71(4):675-82

Progressive intrahepatic cholestasis of infancy and childhood. 
clinicopathological study of patient surviving to the age of 18 years

Jones EA, Rabin L, Buckley CH, Webster GK, Owens D

Abstract

A patient who developed chronic cholestatic jaundice during the 1st year of life
and eventually died of liver cell failure at the age of 18 years is described.
During the terminal illness Kayser-Fleischer-like rings were observed and the
serum concentrations of total copper and ceruloplasmin were elevated. At
autopsy, a mixed macronodular and micronodular cirrhosis was found and
cholangiography and dissection of bile ducts revealed no obstructive lesion of
the biliary tract. There was no family history of hepatobiliary disease. Liver
biopsies obtained at the ages of 5 and 7 years showed accumulation of bile
droplets in hepatocytes, normal-appearing bile ducts, no significant fibrosis,
and intact lobular architecture. Striking features of the terminal cirrhosis
were the presence of Mallory bodies and a marked excess of copper in the liver
(2,175 mug per g dry weight). The latter two findings, as well as the elevated
serum concentrations of total copper and ceruloplasmin, may be attributable to
chronic cholestasis per se. This study emphasizes the clinical and therapeutic
problems posed by chronic cholestasis of unknown etiology in childhood